Somatic overgrowth associated with overexpression of insulin-like growth factor II.

Abstract:

:Overexpression of the normally imprinted fetal insulin-like growth factor II (IGF2) has been implicated in the pathogenesis of the cancer-predisposing Beckwith-Wiedemann syndrome (BWS). We have detected constitutional relaxation of imprinting of IGF2 in four children with somatic overgrowth who do not show diagnostic features of BWS. Three children showed constitutional abnormalities of H19 methylation. All four children showed nephromegaly and two developed Wilms' tumors. Gene methylation is known to be associated with gene silencing, and three children showed constitutional abnormalities of H19 gene methylation. Disruption of H19 methylation, and concomitant relaxation of IGF2 imprinting, provides another mechanism that can increase IGF2 expression in children with overgrowth. The accumulated data on normal and pathologic IGF2 expression are now sufficient to define an entity, "IGF2 overgrowth disorder," of which BWS may be one extreme manifestation. These findings have broad implications for the characterization of idiopathic overgrowth.

journal_name

Nat Med

journal_title

Nature medicine

authors

Morison IM,Becroft DM,Taniguchi T,Woods CG,Reeve AE

doi

10.1038/nm0396-311

subject

Has Abstract

pub_date

1996-03-01 00:00:00

pages

311-6

issue

3

eissn

1078-8956

issn

1546-170X

journal_volume

2

pub_type

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